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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(CMV-GAA*P545L)#Kjv
transgene insertion, Kenneth J Valenzano
MGI:5620661
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cx1
Gaatm1Rabn/Gaatm1Rabn
Tg(CMV-GAA*P545L)#Kjv/0
involves: 129X1/SvJ * C57BL/6 MGI:5620663


Genotype
MGI:5620663
cx1
Allelic
Composition
Gaatm1Rabn/Gaatm1Rabn
Tg(CMV-GAA*P545L)#Kjv/0
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gaatm1Rabn mutation (2 available); any Gaa mutation (54 available)
Tg(CMV-GAA*P545L)#Kjv mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• mice exhibit lysosomal proliferation indicating increased lysosomal content in the heart and skeletal muscle

homeostasis/metabolism
• glycogen levels in the heart and gastrocnemius muscle are elevated 4- and 3.5-fold, respectively, compared to wild-type mice and are about 40% and 53%, respectively of those in single Gaa homozygotes
• treatment with AT2220 (1-deoxynojirimycin hydrochloride; duvoglustat hydrochloride) reduces glycogen levels

muscle

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
glycogen storage disease II DOID:2752 OMIM:232300
J:219022





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory